DisGeNET - a database of gene-disease associations

List of associated variants

Familial aplasia of the vermis, C0431399

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs281865192	CEP290	0.742	0.280	12	88101183	intron variant	T/C	snv		2.8E-04	11
rs1555600644	MKS1	1.000	0.160	17	58216280	intron variant	ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/-	del			1
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs376493409	CEP290	0.742	0.280	12	88083161	stop gained	G/A;T	snv	7.0E-05		12
rs539400286	CEP290	0.763	0.280	12	88086083	stop gained	G/A	snv	1.6E-05	2.1E-05	9
rs1170451277	CEP290	0.776	0.280	12	88120207	stop gained	G/A	snv		1.4E-05	8
rs776645403	CEP290	0.776	0.280	12	88125357	stop gained	G/A	snv	3.8E-05	2.1E-05	8
rs386834152	CEP290	0.790	0.280	12	88114488	stop gained	G/A	snv	5.1E-05	4.9E-05	7
rs386833750	CC2D2A	0.807	0.360	4	15563485	stop gained	C/A;G;T	snv	2.0E-05; 2.0E-05		6
rs121918204	RPGRIP1L	0.827	0.360	16	53652637	stop gained	G/A	snv	6.4E-05	2.1E-05	5
rs1555599412	MKS1	0.827	0.320	17	58213011	stop gained	C/A	snv			5
rs370880399	CC2D2A	0.827	0.360	4	15563395	stop gained	C/T	snv	1.0E-04	1.0E-04	5
rs769705065	CLUAP1	0.882	0.160	16	3520011	stop gained	C/T	snv		7.0E-06	5
rs781252161	CC2D2A	0.827	0.360	4	15533284	stop gained	C/T	snv	1.8E-05	7.0E-06	5
rs886039808	CEP290	0.851	0.480	12	88083848	stop gained	C/T	snv			5
rs137853108	TMEM67	0.851	0.320	8	93765617	stop gained	A/T	snv	1.8E-04	2.6E-04	4
rs11230683	TMEM216	0.882	0.320	11	61397797	stop gained	C/A;G;T	snv	2.8E-03; 4.0E-06; 8.0E-05		3
rs1278679056	CEP290	0.882	0.200	12	88120162	stop gained	T/A	snv		7.0E-06	3
rs1555205328	CEP290	0.882	0.200	12	88080196	stop gained	C/A	snv			3
rs1555212150	CEP290	0.882	0.200	12	88093873	stop gained	TC/CA	mnv			3
rs62638179	CEP290	0.882	0.200	12	88083077	stop gained	C/A	snv	3.6E-05	6.3E-05	3
rs757208121	CC2D2A	0.882	0.200	4	15527564	stop gained	C/T	snv	4.0E-06	1.4E-05	3
rs757641323	CEP290	0.882	0.200	12	88131209	stop gained	G/A	snv		1.4E-05	3
rs760540562	CEP290	0.882	0.200	12	88058868	stop gained	C/T	snv	1.3E-04	2.1E-05	3
rs772170760	CEP290	0.882	0.200	12	88130553	stop gained	T/A	snv	1.4E-05	3.5E-05	3